{"id":60137,"date":"2023-08-24T12:23:52","date_gmt":"2023-08-24T03:23:52","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=60137"},"modified":"2026-05-08T12:33:46","modified_gmt":"2026-05-08T03:33:46","slug":"galactose-1-phosphate-uridyltransferase-deficiency","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/galactose-1-phosphate-uridyltransferase-deficiency\/","title":{"rendered":"\u30ac\u30e9\u30af\u30c8\u30fc\u30b9-1-\u30ea\u30f3\u9178\u30a6\u30ea\u30b8\u30eb\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30e9\u30fc\u30bc\u6b20\u640d\u75c7"},"content":{"rendered":"\n<div style=\"height:30px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><sup>\u30ac\u30e9\u30af\u30c8\u30fc\u30b9\u8840\u75c7\u306f\u3001\u30ac\u30e9\u30af\u30c8\u30fc\u30b9\u4ee3\u8b1d\u306e\u7570\u5e38\u306b\u3088\u308a\u751f\u3058\u308b\u5148\u5929\u6027\u75be\u60a3\u3067\u3059\u3002\u7279\u306bGALT\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u30af\u30e9\u30b7\u30c3\u30af\u30ac\u30e9\u30af\u30c8\u30fc\u30b9\u8840\u75c7\u306f\u3001\u65b0\u751f\u5150\u671f\u306b\u809d\u6a5f\u80fd\u969c\u5bb3\u3084\u767d\u5185\u969c\u3001\u6557\u8840\u75c7\u3092\u5f15\u304d\u8d77\u3053\u3057\u3001\u672a\u6cbb\u7642\u306e\u5834\u5408\u306f\u81f4\u547d\u7684\u3068\u306a\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001\u30ac\u30e9\u30af\u30c8\u30fc\u30b9\u8840\u75c7\u306e\u539f\u56e0\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u3001\u6cbb\u7642\u3001\u4e88\u5f8c\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u3001\u6700\u65b0\u306e\u6cbb\u7642\u6cd5\u3084\u7814\u7a76\u306e\u9032\u5c55\u306b\u3064\u3044\u3066\u3082\u7d39\u4ecb\u3057\u307e\u3059\u3002<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u907a\u4f1d\u5b50\u30fb\u75be\u60a3\u540d<\/h2>\n\n\n\n<p>GALT\uff5cGalactosemia<\/p>\n\n\n\n<p><sup>Galactose-1-phosphate uridylyltransferase (<em>GALT<\/em>) deficiency<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u30ac\u30e9\u30af\u30c8\u30fc\u30b9\u8840\u75c7\uff08Galactosemia\uff09\u306f\u3001\u30ac\u30e9\u30af\u30c8\u30fc\u30b9\u4ee3\u8b1d\u306e\u5148\u5929\u6027\u7570\u5e38\u306b\u3088\u308a\u767a\u75c7\u3059\u308b\u75be\u60a3\u7fa4\u3067\u3042\u308a\u3001\u7279\u306b\u30ac\u30e9\u30af\u30c8\u30fc\u30b9-1-\u30ea\u30f3\u9178\u30a6\u30ea\u30b8\u30ea\u30eb\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30e9\u30fc\u30bc\uff08GALT\uff09\u6b20\u640d\u306b\u8d77\u56e0\u3059\u308b\u30af\u30e9\u30b7\u30c3\u30af\u30ac\u30e9\u30af\u30c8\u30fc\u30b9\u8840\u75c7\uff08\u30bf\u30a4\u30d7I\uff09\u306f\u6700\u3082\u91cd\u7be4\u306a\u75c5\u578b\u3068\u3055\u308c\u308b\u3002GALT\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u9175\u7d20\u6d3b\u6027\u304c\u8457\u3057\u304f\u4f4e\u4e0b\u307e\u305f\u306f\u6d88\u5931\u3057\u3001\u4e73\u7cd6\u3092\u542b\u3080\u98df\u54c1\u306e\u6442\u53d6\u5f8c\u306b\u30ac\u30e9\u30af\u30c8\u30fc\u30b9-1-\u30ea\u30f3\u9178\uff08Gal-1-P\uff09\u3084\u30ac\u30e9\u30af\u30c8\u30fc\u30b9\u4ee3\u8b1d\u7269\u304c\u4f53\u5185\u306b\u84c4\u7a4d\u3059\u308b\u3053\u3068\u3067\u3001\u591a\u81d3\u5668\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3059\u3002\u7279\u306b\u65b0\u751f\u5150\u671f\u306b\u306f\u9ec4\u75b8\u3001\u809d\u6a5f\u80fd\u969c\u5bb3\u3001\u6557\u8840\u75c7\u3001\u767d\u5185\u969c\u306a\u3069\u306e\u6025\u6027\u75c7\u72b6\u304c\u73fe\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u672a\u6cbb\u7642\u306e\u5834\u5408\u306f\u81f4\u6b7b\u7684\u306a\u8ee2\u5e30\u3092\u305f\u3069\u308b\u3053\u3068\u3082\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u73fe\u5728\u306e\u6a19\u6e96\u6cbb\u7642\u306f\u3001\u4e73\u7cd6\u30fb\u30ac\u30e9\u30af\u30c8\u30fc\u30b9\u5236\u9650\u98df\u306b\u3088\u308b\u7ba1\u7406\u3067\u3042\u308a\u3001\u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306b\u3088\u308b\u65e9\u671f\u8a3a\u65ad\u304c\u91cd\u8981\u3067\u3042\u308b\u3002\u3057\u304b\u3057\u3001\u53b3\u683c\u306a\u98df\u4e8b\u7ba1\u7406\u306b\u3082\u304b\u304b\u308f\u3089\u305a\u3001\u795e\u7d4c\u5b66\u7684\u767a\u9054\u9045\u6ede\u3001\u8a00\u8a9e\u969c\u5bb3\u3001\u9aa8\u5bc6\u5ea6\u4f4e\u4e0b\u3001\u65e9\u767a\u6027\u5375\u5de3\u4e0d\u5168\uff08POI\uff09\u306a\u3069\u306e\u9577\u671f\u5408\u4f75\u75c7\u304c\u9ad8\u983b\u5ea6\u3067\u767a\u751f\u3059\u308b\u3053\u3068\u304c\u8ab2\u984c\u3068\u306a\u3063\u3066\u3044\u308b\u3002\u8fd1\u5e74\u3067\u306f\u3001\u907a\u4f1d\u5b50\u6cbb\u7642\u3084mRNA\u6cbb\u7642\u3001\u85ac\u7406\u5b66\u7684\u30b7\u30e3\u30da\u30ed\u30f3\u306a\u3069\u3001\u65b0\u305f\u306a\u6cbb\u7642\u6226\u7565\u306e\u958b\u767a\u304c\u9032\u3081\u3089\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>\u30af\u30e9\u30b7\u30c3\u30af\u30ac\u30e9\u30af\u30c8\u30fc\u30b9\u8840\u75c7\u306e\u767a\u75c7\u7387\u306f\u6c11\u65cf\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u3001\u897f\u6b27\u8af8\u56fd\u3067\u306f1\/16,000\uff5e1\/50,000\u306e\u983b\u5ea6\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002\u30a2\u30a4\u30eb\u30e9\u30f3\u30c9\u3067\u306f\u7279\u306b\u9ad8\u304f\u30011\/16,476\u3067\u3042\u308a\u3001\u30c8\u30e9\u30d9\u30e9\u30fc\u6c11\u65cf\u3067\u306f1\/430\u3068\u6975\u3081\u3066\u9ad8\u3044\u983b\u5ea6\u3092\u793a\u3059\u3002\u4e00\u65b9\u3001\u65e5\u672c\u3067\u306f1\/100,000\u3001\u53f0\u6e7e\u3067\u306f1\/400,000\u3001\u4e2d\u56fd\u3067\u306f1\/759,428\u3068\u6bd4\u8f03\u7684\u4f4e\u983b\u5ea6\u3067\u3042\u308b\u3002\u30a2\u30d5\u30ea\u30ab\u7cfb\u30a2\u30e1\u30ea\u30ab\u4eba\u3067\u306f\u3001\u81e8\u5e8a\u5909\u7570\u578b\u30ac\u30e9\u30af\u30c8\u30fc\u30b9\u8840\u75c7\u306e\u539f\u56e0\u3068\u306a\u308bp.Ser135Leu\u5909\u7570\u304c\u9ad8\u983b\u5ea6\u306b\u8a8d\u3081\u3089\u308c\u3001\u305d\u306e\u767a\u751f\u7387\u306f1\/20,000\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>GALT\u907a\u4f1d\u5b50\u306f\u67d3\u8272\u4f539p13\u306b\u4f4d\u7f6e\u3057\u3001\u5168\u9577\u7d044.3 kb\u300111\u500b\u306e\u30a8\u30af\u30bd\u30f3\u304b\u3089\u69cb\u6210\u3055\u308c\u308b\u3002GALT\u9175\u7d20\u306f\u30db\u30e2\u4e8c\u91cf\u4f53\u3067\u3042\u308a\u3001His-Pro-His\u30e2\u30c1\u30fc\u30d5\u3092\u542b\u30802\u3064\u306e\u6a5f\u80fd\u90e8\u4f4d\u3092\u6301\u3064\u3002\u30af\u30e9\u30b7\u30c3\u30af\u30ac\u30e9\u30af\u30c8\u30fc\u30b9\u8840\u75c7\u306f\u3001GALT\u9175\u7d20\u6d3b\u6027\u306e\u5b8c\u5168\u307e\u305f\u306f\u8457\u3057\u3044\u6b20\u640d\u306b\u3088\u3063\u3066\u751f\u3058\u308b\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u75be\u60a3\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<p>GALT\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u306f319\u7a2e\u985e\u4ee5\u4e0a\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u305d\u306e\u3046\u306170%\u304c\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\u3067\u3042\u308b\u3002\u7279\u306b\u3001p.Gln188Arg\uff08Q188R\uff09\u306f\u6b27\u5dde\u7cfb\u96c6\u56e3\u3067\u6700\u3082\u983b\u5ea6\u304c\u9ad8\u304f\u3001\u5168\u5909\u7570\u30a2\u30ec\u30eb\u306e\u7d0470%\u3092\u5360\u3081\u308b\u3002\u305d\u306e\u4ed6\u3001p.Lys285Asn\uff08K285N\uff09\u304c\u30c9\u30a4\u30c4\u304a\u3088\u3073\u30aa\u30fc\u30b9\u30c8\u30ea\u30a2\u3067\u7d0454%\u3001p.Ser135Leu\uff08S135L\uff09\u304c\u30a2\u30d5\u30ea\u30ab\u7cfb\u30a2\u30e1\u30ea\u30ab\u4eba\u96c6\u56e3\u3067\u7d0450%\u3001c.253\u20132 A&gt;G\u304c\u30d2\u30b9\u30d1\u30cb\u30c3\u30af\u7cfb\u96c6\u56e3\u3067\u7d0411%\u306e\u5272\u5408\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6 | Symptoms<\/h2>\n\n\n\n<p>\u30af\u30e9\u30b7\u30c3\u30af\u30ac\u30e9\u30af\u30c8\u30fc\u30b9\u8840\u75c7\u306e\u81e8\u5e8a\u75c7\u72b6\u306f\u3001\u65b0\u751f\u5150\u671f\u306e\u6025\u6027\u75c7\u72b6\u3068\u9577\u671f\u5408\u4f75\u75c7\u306b\u5927\u5225\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u65b0\u751f\u5150\u671f\u306e\u75c7\u72b6<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u54fa\u4e73\u56f0\u96e3<\/li>\n\n\n\n<li>\u5614\u5410<\/li>\n\n\n\n<li>\u4f4e\u8840\u7cd6<\/li>\n\n\n\n<li>\u4e0b\u75e2<\/li>\n\n\n\n<li>\u9ec4\u75b8<\/li>\n\n\n\n<li>\u809d\u816b\u5927\u30fb\u809d\u6a5f\u80fd\u969c\u5bb3<\/li>\n\n\n\n<li>\u7b4b\u7dca\u5f35\u4f4e\u4e0b<\/li>\n\n\n\n<li>\u773c\u5727\u4f4e\u4e0b<\/li>\n\n\n\n<li>\u814e\u5c3f\u7d30\u7ba1\u969c\u5bb3<\/li>\n\n\n\n<li>\u767d\u5185\u969c<\/li>\n\n\n\n<li>\u6557\u8840\u75c7\uff08\u7279\u306b\u5927\u8178\u83cc\u306b\u3088\u308b\u611f\u67d3\u75c7\uff09<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\">\u9577\u671f\u5408\u4f75\u75c7<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8a9e\u767a\u9054\u9045\u6ede\uff08\u7279\u306b\u5c0f\u5150\u5931\u8a9e\u75c7\uff09<\/li>\n\n\n\n<li>\u904b\u52d5\u969c\u5bb3<\/li>\n\n\n\n<li>\u8a8d\u77e5\u6a5f\u80fd\u969c\u5bb3<\/li>\n\n\n\n<li>\u6210\u9577\u969c\u5bb3<\/li>\n\n\n\n<li>\u4f4e\u9aa8\u5bc6\u5ea6\uff08\u9aa8\u7c97\u9b06\u75c7\uff09<\/li>\n\n\n\n<li>\u65e9\u767a\u6027\u5375\u5de3\u4e0d\u5168\uff08POI\uff09<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad | Tests &amp; Diagnosis<\/h2>\n\n\n\n<p>\u30ac\u30e9\u30af\u30c8\u30fc\u30b9\u8840\u75c7\u306e\u8a3a\u65ad\u306b\u306f\u3001\u4ee5\u4e0b\u306e\u691c\u67fb\u304c\u884c\u308f\u308c\u308b\u3002<\/p>\n\n\n\n<ol start=\"1\" class=\"wp-block-list\">\n<li><strong>\u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8840\u4e2d\u30ac\u30e9\u30af\u30c8\u30fc\u30b9\u304a\u3088\u3073Gal-1-P\u306e\u6e2c\u5b9a<\/li>\n\n\n\n<li>\u8d64\u8840\u7403GALT\u9175\u7d20\u6d3b\u6027\u6e2c\u5b9a<\/li>\n\n\n\n<li>GALT\u907a\u4f1d\u5b50\u5909\u7570\u89e3\u6790<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u78ba\u5b9a\u8a3a\u65ad<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u30ac\u30e9\u30af\u30c8\u30fc\u30b9\u5236\u9650\u98df\u65bd\u884c\u5f8c\u306e\u81e8\u5e8a\u75c7\u72b6\u306e\u6539\u5584<\/li>\n\n\n\n<li>\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u306b\u3088\u308b\u75c5\u7684\u5909\u7570\u306e\u540c\u5b9a<\/li>\n<\/ul>\n<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n\n\n\n<p>\u73fe\u5728\u306e\u6a19\u6e96\u6cbb\u7642\u306f\u3001<strong>\u4e73\u7cd6\u30fb\u30ac\u30e9\u30af\u30c8\u30fc\u30b9\u5236\u9650\u98df<\/strong>\u3067\u3042\u308a\u3001\u4ee5\u4e0b\u306e\u7ba1\u7406\u304c\u63a8\u5968\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<ol start=\"1\" class=\"wp-block-list\">\n<li><strong>\u98df\u4e8b\u7ba1\u7406<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e73\u7cd6\u3092\u542b\u3080\u98df\u54c1\u306e\u5b8c\u5168\u9664\u53bb\uff08\u6bcd\u4e73\u3001\u4e73\u88fd\u54c1\u3001\u30ab\u30bc\u30a4\u30f3\u30fb\u30db\u30a8\u30a4\u542b\u6709\u98df\u54c1\u306e\u56de\u907f\uff09<\/li>\n\n\n\n<li>\u30ab\u30eb\u30b7\u30a6\u30e0\u3001\u30d3\u30bf\u30df\u30f3D\u3001\u30d3\u30bf\u30df\u30f3K\u306e\u88dc\u5145<\/li>\n\n\n\n<li>\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u5927\u8c46\u30d9\u30fc\u30b9\u306e\u30d5\u30a9\u30fc\u30df\u30e5\u30e9\u30df\u30eb\u30af\uff08\u305f\u3060\u3057\u3001\u75d5\u8de1\u91cf\u306e\u30ac\u30e9\u30af\u30c8\u30fc\u30b9\u3092\u542b\u3080\u53ef\u80fd\u6027\u3042\u308a\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u88dc\u52a9\u7642\u6cd5<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u65e9\u671f\u8a00\u8a9e\u7642\u6cd5\uff08Babble Boot Camp \u306a\u3069\uff09<\/li>\n\n\n\n<li>\u904b\u52d5\u6a5f\u80fd\u306e\u8a55\u4fa1\u3068\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/li>\n\n\n\n<li>\u30db\u30eb\u30e2\u30f3\u88dc\u5145\u7642\u6cd5\uff08\u65e9\u767a\u6027\u5375\u5de3\u4e0d\u5168\u306b\u5bfe\u3059\u308b\u30a8\u30b9\u30c8\u30ed\u30b2\u30f3\u88dc\u5145\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u65b0\u898f\u6cbb\u7642\u6cd5\u306e\u958b\u767a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u907a\u4f1d\u5b50\u6cbb\u7642\uff08AAV9-hGALT\u3092\u7528\u3044\u305fGALT\u907a\u4f1d\u5b50\u5c0e\u5165\uff09<\/li>\n\n\n\n<li>mRNA\u6cbb\u7642\uff08LNP\u5c01\u5165GALT mRNA\u306e\u809d\u7d30\u80de\u3078\u306e\u9001\u9054\uff09<\/li>\n\n\n\n<li>\u85ac\u7406\u5b66\u7684\u30b7\u30e3\u30da\u30ed\u30f3\uff08\u5909\u7570GALT\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u5b89\u5b9a\u5316\uff09<\/li>\n<\/ul>\n<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>\u65b0\u751f\u5150\u671f\u306e\u53b3\u683c\u306a\u98df\u4e8b\u7ba1\u7406\u306b\u3088\u308a\u6025\u6027\u75c7\u72b6\u306f\u6539\u5584\u3059\u308b\u304c\u3001\u9577\u671f\u5408\u4f75\u75c7\u306e\u767a\u751f\u3092\u5b8c\u5168\u306b\u9632\u3050\u3053\u3068\u306f\u56f0\u96e3\u3067\u3042\u308b\u3002\u7279\u306b\u3001\u795e\u7d4c\u5b66\u7684\u767a\u9054\u9045\u6ede\u3001\u8a00\u8a9e\u969c\u5bb3\u3001\u904b\u52d5\u6a5f\u80fd\u969c\u5bb3\u3001\u65e9\u767a\u6027\u5375\u5de3\u4e0d\u5168\u306a\u3069\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u3044\u3002\u73fe\u5728\u3001\u907a\u4f1d\u5b50\u6cbb\u7642\u3084mRNA\u6cbb\u7642\u306a\u3069\u306e\u65b0\u898f\u6cbb\u7642\u6cd5\u304c\u7814\u7a76\u3055\u308c\u3066\u304a\u308a\u3001\u4eca\u5f8c\u306e\u81e8\u5e8a\u5fdc\u7528\u304c\u671f\u5f85\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<p>\u30ac\u30e9\u30af\u30c8\u30fc\u30b9\u8840\u75c7\u306e\u9577\u671f\u7ba1\u7406\u306b\u306f\u3001<strong>\u65e9\u671f\u8a3a\u65ad\u30fb\u4ecb\u5165\u3001\u9069\u5207\u306a\u98df\u4e8b\u7ba1\u7406\u3001\u5408\u4f75\u75c7\u306e\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u3001\u60a3\u8005\u304a\u3088\u3073\u5bb6\u65cf\u306e\u6559\u80b2<\/strong>\u304c\u91cd\u8981\u3067\u3042\u308a\u3001\u591a\u8077\u7a2e\u306b\u3088\u308b\u5305\u62ec\u7684\u306a\u30b1\u30a2\u304c\u6c42\u3081\u3089\u308c\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u5f15\u7528\u6587\u732e\uff5cReferences<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.1186\/s12887-024-04769-0\">Wang, Yc., Lan, Lc., Yang, X. <em>et al.<\/em> A case report of classic galactosemia with a <em>GALT<\/em> gene variant and a literature review. <em>BMC Pediatr<\/em> <strong>24<\/strong>, 352 (2024). https:\/\/doi.org\/10.1186\/s12887-024-04769-0<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/nu15010010\">Badiu Ti\u0219a, I., Achim, A. C., &amp; Cozma-Petru\u021b, A. (2022). The importance of neonatal screening for galactosemia. <em>Nutrients<\/em>, <em>15<\/em>(1), 10. https:\/\/doi.org\/10.3390\/nu15010010<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/jimd.12471\">Daenzer, J. M. I., Rasmussen, S. A., Patel, S., McKenna, J., &amp; Fridovich\u2010Keil, J. L. (2022). Neonatal <em>GALT<\/em> gene replacement offers metabolic and phenotypic correction through early adulthood in a rat model of classic galactosemia. <em>Journal of Inherited Metabolic Disease<\/em>, <em>45<\/em>(2), 203\u2013214. https:\/\/doi.org\/10.1002\/jimd.12471<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/jpm11020075\">Delnoy, B., Coelho, A. I., &amp; Rubio-Gozalbo, M. E. (2021). Current and future treatments for classic galactosemia. <em>Journal of Personalized Medicine<\/em>, <em>11<\/em>(2), 75. https:\/\/doi.org\/10.3390\/jpm11020075<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1518\/\">Berry GT. Classic Galactosemia and Clinical Variant Galactosemia. 2000 Feb 4 [Updated 2021 Mar 11]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1518\/<\/a><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<\/h2>\n\n\n\n<p class=\"has-text-align-center\"><sup><sup>\u30ac\u30e9\u30af\u30c8\u30fc\u30b9\u8840\u75c7, GALT\u907a\u4f1d\u5b50, \u30ac\u30e9\u30af\u30c8\u30fc\u30b9-1-\u30ea\u30f3\u9178, \u4e73\u7cd6\u4e0d\u8010\u75c7, \u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0, \u65e9\u767a\u6027\u5375\u5de3\u4e0d\u5168, \u30af\u30e9\u30b7\u30c3\u30af\u30ac\u30e9\u30af\u30c8\u30fc\u30b9\u8840\u75c7, \u30ac\u30e9\u30af\u30c8\u30fc\u30b9\u4ee3\u8b1d\u7570\u5e38, \u907a\u4f1d\u5b50\u6cbb\u7642, mRNA\u6cbb\u7642, \u30ac\u30e9\u30af\u30c8\u30fc\u30b9\u5236\u9650\u98df, \u767d\u5185\u969c, \u9ec4\u75b8, \u809d\u6a5f\u80fd\u969c\u5bb3<\/sup><\/sup><\/p>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-60137","genetic-diseases","type-genetic-diseases","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/60137","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/genetic-diseases"}],"version-history":[{"count":7,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/60137\/revisions"}],"predecessor-version":[{"id":128079,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/60137\/revisions\/128079"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=60137"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}